A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594750



Internal ID6635026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237824177..237867249hg38UCSC Ensembl
chr2:238732820..238775892hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3843073
hg1943073
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10887262
SamplesHG03139
Known GenesRAMP1, RBM44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594750
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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